Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Arthrogryposis and Ectodermal Dysplasia | | ISO | OTOF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Trichooculodermovertebral syndrome | ClinVar | PMID:16199547 more ... | Auditory Neuropathy | | ISO | OTOF (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:18381613 more ... | autosomal recessive nonsyndromic deafness | | ISO | OTOF (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12525542 more ... | autosomal recessive nonsyndromic deafness 9 | | ISO | OTOF (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10192385 more ... | autosomal recessive nonsyndromic deafness 9 | | ISO | OTOF (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10192385 more ... | Deafness | | ISO | OTOF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Deafness | ClinVar | PMID:30303587 | genetic disease | | ISO | OTOF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:24033266 more ... | Hearing Loss | | ISO | OTOF (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:18381613 more ... | nonsyndromic deafness | | ISO | OTOF (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10903124 more ... | Pendred syndrome | | ISO | OTOF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pendred syndrome | ClinVar | PMID:30311386 | sensorineural hearing loss | | ISO | OTOF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar | PMID:12525542 more ... | Tatton-Brown-Rahman syndrome | | ISO | OTOF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome | ClinVar | PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - OMIM
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